Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification of a Homozygous PGM2L1 Variant in a Male Patient With Developmental Delay and Seizures.

Molecular genetics & genomic medicine - 1 Mar 2026

Niu Mengmeng, Wang Dong, Jia Shanshan

Abstract excerpt

BACKGROUND: PGM2L1 gene variants are associated with developmental delays, seizures, and various neurological and physical symptoms. This study aims to report the clinical features and genetic findings in a male patient with developmental delay, regression, and seizures. METHODS: Whole-exome sequencing (WES) was performed on the patient to identify the genetic etiology of the patient. Sanger sequencing was used...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Developmental Disabilities
Share to Exome Sequencing
Share to Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Mutation

Share to Seizures

Source

Open in PubMed Open full text

Identifiers

PMID: 41776821
DOI: 10.1002/mgg3.70195
PMCID: PMC12956830

Genes

PGM2L1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a Homozygous PGM2L1 Variant in a Male Patient With Developmental Delay and Seizures.PMID 41776821Read ↗

Delineating the Adult Phenotype of PGM2L1 -Related Neurodevelopmental Disorder.Semantic proximity Read ↗

Genetic spectrum of rare neurogenetic and neurometabolic disorders in a clinically heterogeneous cohort: insights from whole-exome sequencing.Semantic proximity Read ↗

Clinical analysis of PAFAH1B1 gene variants in pediatric patients with epilepsy.Semantic proximity Read ↗

Recurrent IRF2BPL c.2152del Variant in NEDAMSS: A Case Report and Comparative Analysis.Semantic proximity Read ↗

De novo variants in PHF21A cause intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures: A case report and literature review.Semantic proximity Read ↗

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneitySemantic proximity Read ↗

Whole‐exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo <i>GRIN2A</i> mutationSemantic proximity Read ↗

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.Semantic proximity Read ↗

HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders.Semantic proximity Read ↗

Identification of a pathogenic mutation in PCDH19-related female-limited epilepsySemantic proximity Read ↗

Developmental Epileptic Encephalopathy in a Pediatric Patient: Insights from a Novel SULT4A1 Variant and Genetic Challenges.Semantic proximity Read ↗

A novel missense variant in the LMNB2 gene causes progressive myoclonus epilepsy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.